日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Six New Cases of 22q13.2 Gain Including TFC20: First Report of Triplication and Smallest Duplication Associated With Neurodevelopmental Delays

六例22q13.2扩增新病例,包括TFC20:首例三倍体和最小重复与神经发育迟缓相关病例报告

Bizot, Etienne; Jouni, Dima; Rooryck, Caroline; Taylor, Juliet; Legendre, Marine; Charbonnier, Lorelei; Metreau, Julia; Benaloun, Emmanuelle; Pinson, Audrey; Quenum, Geneviève; Bouligand, Jérôme; Tachdjian, Gérard; Labrune, Philippe; Tosca, Lucie

WWOX developmental and epileptic encephalopathy: Understanding the epileptology and the mortality risk

WWOX发育性和癫痫性脑病:了解癫痫病学和死亡风险

Oliver, Karen L; Trivisano, Marina; Mandelstam, Simone A; De Dominicis, Angela; Francis, David I; Green, Timothy E; Muir, Alison M; Chowdhary, Apoorva; Hertzberg, Christoph; Goldhahn, Klaus; Metreau, Julia; Prager, Christine; Pinner, Jason; Cardamone, Michael; Myers, Kenneth A; Leventer, Richard J; Lesca, Gaetan; Bahlo, Melanie; Hildebrand, Michael S; Mefford, Heather C; Kaindl, Angela M; Specchio, Nicola; Scheffer, Ingrid E

The recurrent TCF4 missense variant p.(Arg389Cys) causes a neurodevelopmental disorder overlapping with but not typical for Pitt-Hopkins syndrome

复发性 TCF4 错义变异 p.(Arg389Cys) 会导致一种神经发育障碍,该障碍与 Pitt-Hopkins 综合征的症状有重叠,但又不具有典型特征。

Popp, Bernt; Bienvenu, Thierry; Giurgea, Irina; Metreau, Julia; Kraus, Cornelia; Reis, André; Fischer, Jan; Bralo, María Palomares; Tenorio-Castaño, Jair; Lapunzina, Pablo; Almoguera, Berta; Lopez-Grondona, Fermina; Sticht, Heinrich; Zweier, Christiane

A new partially hydrolyzed whey-based follow-on formula with age-adapted protein content supports healthy growth during the first year of life

全新部分水解乳清蛋白配方,蛋白质含量根据年龄进行调整,支持宝宝在生命第一年的健康成长。

Billeaud, Claude; Adamon, Latif; Piloquet, Hugues; Hays, Nicholas P; Dupuis, Lénaïck; Metreau, Isabelle; Léké, André

De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature

新发TBR1变异导致伴有智力障碍和自闭症特征的神经认知表型:25例新病例报告及文献综述

Nambot, Sophie; Faivre, Laurence; Mirzaa, Ghayda; Thevenon, Julien; Bruel, Ange-Line; Mosca-Boidron, Anne-Laure; Masurel-Paulet, Alice; Goldenberg, Alice; Le Meur, Nathalie; Charollais, Aude; Mignot, Cyril; Petit, Florence; Rossi, Massimiliano; Metreau, Julia; Layet, Valérie; Amram, Daniel; Boute-Bénéjean, Odile; Bhoj, Elizabeth; Cousin, Margot A; Kruisselbrink, Teresa M; Lanpher, Brendan C; Klee, Eric W; Fiala, Elise; Grange, Dorothy K; Meschino, Wendy S; Hiatt, Susan M; Cooper, Gregory M; Olivié, Hilde; Smith, Wendy E; Dumas, Meghan; Lehman, Anna; Inglese, Cara; Nizon, Mathilde; Guerrini, Renzo; Vetro, Annalisa; Kaplan, Eitan S; Miramar, Dolores; Van Gils, Julien; Fergelot, Patricia; Bodamer, Olaf; Herkert, Johanna C; Pajusalu, Sander; Õunap, Katrin; Filiano, James J; Smol, Thomas; Piton, Amélie; Gérard, Bénédicte; Chantot-Bastaraud, Sandra; Bienvenu, Thierry; Li, Dong; Juusola, Jane; Devriendt, Koen; Bilan, Frederic; Poé, Charlotte; Chevarin, Martin; Jouan, Thibaud; Tisserant, Emilie; Rivière, Jean-Baptiste; Tran Mau-Them, Frédéric; Philippe, Christophe; Duffourd, Yannis; Dobyns, William B; Hevner, Robert; Thauvin-Robinet, Christel

Biallelic PDE2A variants: a new cause of syndromic paroxysmal dyskinesia

双等位基因PDE2A变异:综合征性阵发性运动障碍的新病因

Doummar, Diane; Dentel, Christel; Lyautey, Romane; Metreau, Julia; Keren, Boris; Drouot, Nathalie; Malherbe, Ludivine; Bouilleret, Viviane; Courraud, Jérémie; Valenti-Hirsch, Maria Paola; Minotti, Lorella; Dozieres-Puyravel, Blandine; Bär, Séverine; Scholly, Julia; Schaefer, Elise; Nava, Caroline; Wirth, Thomas; Nasser, Hala; de Salins, Marie; de Saint Martin, Anne; Warde, Marie Thérèse Abi; Kahane, Philippe; Hirsch, Edouard; Anheim, Mathieu; Friant, Sylvie; Chelly, Jamel; Mignot, Cyril; Rudolf, Gabrielle

Ascitic fluid pH in alcoholic cirrhosis: a reevaluation of its use in the diagnosis of spontaneous bacterial peritonitis

酒精性肝硬化患者腹水pH值:重新评估其在自发性细菌性腹膜炎诊断中的应用

Scemama-Clergue, J; Doutrellot-Philippon, C; Metreau, J M; Teisseire, B; Capron, D; Dhumeaux, D

Role of bilirubin overproduction in revealing Gilbert's syndrome: is dyserythropoiesis an important factor?

胆红素过度生成在揭示吉尔伯特综合征中的作用:红细胞生成障碍是一个重要因素吗?

Metreau, J M; Yvart, J; Dhumeaux, D; Berthelot, P